Multidisciplinary investigation in Down syndrome: bear in mind
Roberto Rossi1, Davide Blonna, Margherita Germano
1Department of Orthopedics and Traumatology, University of Torino Medical School, Mauriziano, Umberto I, Hospital, Torino, Italy.
Orthopedics
|March 19, 2009
Summary
Elderly individuals with Down syndrome face increased risks of osteoporosis and fractures, such as bilateral femoral neck fractures. Regular health screenings are crucial for early detection and management of these bone conditions.
Area of Science:
- Orthopedics
- Rheumatology
- Geriatrics
Background:
- Down syndrome patients have increased risks of orthopedic and rheumatologic disorders.
- Improved survival rates mean more individuals with Down syndrome are living into old age, necessitating consideration of age-related conditions like osteoporosis.
- Femoral neck fractures are common in elderly individuals with Down syndrome, often triggered by trauma or seizures.
Observation:
- A 50-year-old male with Down syndrome experienced progressive mobility loss and confusion, initially misdiagnosed as neurological.
- The patient had no history of falls but presented with bilateral femoral neck fractures.
- A multidisciplinary team diagnosed the fractures, and the patient underwent bilateral hip hemiarthroplasty.
Findings:
- Osteoporosis in Down syndrome is multifactorial, influenced by lifestyle, endocrine issues, and medications.
- Limited communication in Down syndrome patients can delay diagnosis of underlying health problems.
- Musculoskeletal disorders are significant health concerns for this population.
Implications:
- Annual systematic health screenings, including osteoporosis screening, are recommended for individuals with Down syndrome.
- Early detection and intervention are vital for managing orthopedic and rheumatologic conditions in aging Down syndrome patients.
- Multidisciplinary care is essential for accurate diagnosis and treatment of complex health issues in Down syndrome.
Related Concept Videos
Karyotyping
Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Autism Spectrum Disorder
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Case Studies
There are many research methods available to psychologists in their efforts to understand, describe, and explain behavior and the cognitive and biological processes that underlie it.
Learning Disabilities
Learning disabilities are cognitive disorders caused by neurological impairments that affect cognitive functions like language and reading, without indicating overall intellectual or developmental challenges. These disabilities differ from global intellectual or developmental disabilities as they are limited to distinct cognitive functions. Common learning disabilities include dysgraphia, dyslexia, and dyscalculia, each of which impacts unique aspects of learning.
Dyslexia
Dyslexia is a...
Dyslexia
Dyslexia is a...
Intellectual Disability
Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...


